POMP Antibody – Rabbit Polyclonal

The protein encoded by this gene is a molecular chaperone that binds 20S preproteasome components and is essential for 20S proteasome formation. The 20S proteasome is the proteolytically active component of the 26S proteasome complex. The encoded protein is degraded before the maturation of the 20S proteasome is complete. A variant in the 5' UTR of this gene has been associated with KLICK syndrome, a rare skin disorder.[provided by RefSeq, Aug 2010]

POMP: Molecular chaperone essential for the assembly of standard proteasomes and immunoproteasomes. Degraded after completion of proteasome maturation. Mediates the association of 20S preproteasome with the endoplasmic reticulum. Defects in POMP are the cause of keratosis linearis with ichthyosis congenita and sclerosing keratoderma (KLICK). KLICK is a keratinizing disorder characterized by ichthyosis, palmoplantar keratoderma with constricting bands around fingers, flexural deformities of fingers and keratotic papules in a linear distribution on the flexural side of large joints. Histological examination of the skin of affected individuals shows hypertrophy and hyperplasia of the spinous, granular and horny epidermal layer. Belongs to the POMP/UMP1 family.

Protein type: Proteasome complex

Chromosomal Location of Human Ortholog: 13q12.3

Cellular Component: cytoplasm; cytosol; endoplasmic reticulum; nucleoplasm; nucleus

Molecular Function: protein binding

Biological Process: proteasome assembly

Disease: Keratosis Linearis With Ichthyosis Congenita And Sclerosing Keratoderma